Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys)
Uncertain Significance
antithrombin III deficiency2024-06-25
2.0
ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0SERPINC1
View NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys)
Likely Benign
antithrombin III deficiency2024-01-25
1.0
ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0SERPINC1
Showing 1 to 2 of 2 rows